Clinical Trial: NIPD on CFTC for Triplet Repeat Diseases

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Interventional




Official Title: Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases

Brief Summary: The purprose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat disesases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington's disease, Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia 1, 2 and 3.